Fever, and Coarctation of aorta

Diseases related with Fever and Coarctation of aorta

In the following list you will find some of the most common rare diseases related to Fever and Coarctation of aorta that can help you solving undiagnosed cases.

Top matches:

Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

FAMILIAL BICUSPID AORTIC VALVE Is also known as aortic valve, calcification of|aortic stenosis, calcific|aortic valve, bicuspid|familial bav|bav|bicuspid aortic valve|aortic valve disease

Related symptoms:

  • Hypertension
  • Fever
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL BICUSPID AORTIC VALVE

Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Other less relevant matches:

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Low match BLAU SYNDROME

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

Top 5 symptoms//phenotypes associated to Fever and Coarctation of aorta

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Coarctation of aorta. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Posteriorly rotated ears Short stature Hypertelorism Micrognathia Ptosis High palate Cleft palate Low-set ears Intellectual disability Abnormal heart morphology Dilatation Brachydactyly Abnormality of cardiovascular system morphology Abnormality of the kidney Sensorineural hearing impairment Short neck Hypertension Hydronephrosis Patent ductus arteriosus Cryptorchidism Downslanted palpebral fissures Hypoplasia of the corpus callosum Strabismus Growth delay Hearing impairment Bicuspid aortic valve Diarrhea Pulmonic stenosis Bulbous nose Poor suck Vomiting Arthralgia Specific learning disability Behavioral abnormality Renal hypoplasia Generalized hypotonia Glaucoma Tetralogy of Fallot Synovitis Iris coloboma Epicanthus Constipation Abnormal heart valve morphology Postnatal growth retardation Failure to thrive Nystagmus Cognitive impairment Cataract Microphthalmia Retrognathia Hypertonia Proptosis Pain Arthritis Congestive heart failure Scoliosis Syndactyly Amblyopia Anemia Hypertrophic cardiomyopathy Edema Flexion contracture Wide nasal bridge Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Skin rash Neurological speech impairment Erythema Finger syndactyly Telecanthus Short philtrum Gastroesophageal reflux Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Camptodactyly of finger Feeding difficulties Webbed neck Sparse hair Recurrent infections Lymphadenopathy Leukocytosis Hypospadias Pectus excavatum Arnold-Chiari malformation Hydrocephalus Primary amenorrhea Hypotrichosis Agenesis of corpus callosum Low posterior hairline Amenorrhea Wide intermamillary distance Hypothyroidism High, narrow palate Arteritis Inflammatory abnormality of the eye Polyhydramnios Tracheal stenosis Hypogonadism Abnormality of the pinna Submucous cleft hard palate Fatigue Thrombocytopenia Psoriasiform dermatitis Renal agenesis Migraine Bifid uvula Headache Polymicrogyria Microtia Splenomegaly Attention deficit hyperactivity disorder Neoplasm Retinopathy Bifid scrotum Abdominal distention Aganglionic megacolon Ascending tubular aorta aneurysm Sloping forehead Fine hair Sparse scalp hair Sclerocornea Recurrent otitis media Abnormality of the genital system Vasculitis Aplasia/Hypoplasia of the cerebellum Absence seizures Skin ulcer Aplasia/Hypoplasia of the corpus callosum Myocardial infarction Abdominal pain Pyloric stenosis Pulmonary arterial hypertension Unilateral renal agenesis Hypoplasia of the frontal lobes Short nose Delayed eruption of teeth Blepharophimosis Broad forehead Toe syndactyly Facial asymmetry Hip dislocation Short palm Intellectual disability, severe Triangular face Dry skin Short metacarpal Short palpebral fissure Skeletal dysplasia Dyspnea Micropenis Severe intrauterine growth retardation Short chin Polydactyly Micromelia Clinodactyly of the 5th finger Cerebellar hypoplasia Oligohydramnios Cardiomyopathy Aortic regurgitation Aortic aneurysm Short thumb Abnormality of the metacarpal bones Abnormality of the urinary system Abnormal form of the vertebral bodies Hypoplastic aortic arch Limb undergrowth Delayed skeletal maturation Premature birth Renal cyst Muscle weakness Abnormality of the skeletal system Malar flattening Depressivity Clinodactyly Arrhythmia Severe short stature Hyponatremia Long nose Ventriculomegaly Pericarditis Hyperkalemia Intrauterine growth retardation Spasticity Anteverted nares 2-3 toe syndactyly Muscular hypotonia Congenital diaphragmatic hernia Aplastic clavicle Elbow dislocation Large hands Preaxial polydactyly Decreased fetal movement Diabetes insipidus Small anterior fontanelle Tethered cord Rickets Abnormality of finger Aplasia/hypoplasia of the femur Abnormality of the ribs Multiple joint contractures Hydroureter Large iliac wings Broad distal phalanx of finger Abnormality of the upper urinary tract Prominent occiput Femoral bowing Ambiguous genitalia Thin eyebrow Hypoplasia of penis Sacral dimple Long clavicles Multicystic kidney dysplasia Precocious puberty Reduced number of teeth Optic nerve hypoplasia Renal hypoplasia/aplasia Scrotal hypoplasia Abnormal dermatoglyphics Hypercholesterolemia Holoprosencephaly Abnormality of dental enamel Hyperbilirubinemia Short toe Central hypothyroidism Gingival overgrowth Rhizomelia Dental crowding Split hand Choanal atresia Lissencephaly Abnormality of the intervertebral disk Cutaneous photosensitivity Abnormally ossified vertebrae Colpocephaly Intellectual disability, profound Abnormality of calcium-phosphate metabolism Agenesis of cerebellar vermis Profound global developmental delay Bowed humerus Disproportionate short stature Broad palm Long foot Autism Hyperactivity Osteomalacia Upslanted palpebral fissure Long philtrum Bifid femur Short humerus Kyphosis Aggressive behavior Hip contracture Enlarged metaphyses Epileptic spasms Absent knee epiphyses Cleft vertebral arch Talipes equinovarus Arachnoid cyst Optic atrophy Thickened nuchal skin fold Bifid first metacarpal Flat acetabular roof Hypoglycemia Intellectual disability, moderate Eczema Short femur Loss of eyelashes Delayed epiphyseal ossification Narrow forehead 11 pairs of ribs Abnormal cortical gyration Cortical gyral simplification Partial agenesis of the corpus callosum Abnormality of the distal phalanx of finger Hypoplastic ilia Abnormality of the pubic bone Postaxial hand polydactyly Feeding difficulties in infancy Peripheral demyelination Shoulder flexion contracture Dandy-Walker malformation Abnormality of the tragus Intestinal malrotation Prolonged neonatal jaundice Hypopigmentation of the skin Sleep disturbance Postaxial polydactyly Pulmonary hypoplasia Autistic behavior Wide mouth Median cleft palate Self-injurious behavior Large vessel vasculitis Posterior uveitis Iridocyclitis Abnormal salivary gland morphology Abnormal choroid morphology Polyarticular arthritis Clear cell renal cell carcinoma Retrobulbar optic neuritis Abnormality of the retinal vasculature Abnormal inflammatory response Jaundice Proteinuria Irritability Respiratory tract infection Nausea and vomiting Erythema nodosum Abnormality of the optic nerve Hepatitis Papule Hypertensive crisis Increased inflammatory response Visual loss Photophobia Facial palsy Abnormality of the liver Ichthyosis Abnormal cranial nerve morphology Stage 5 chronic kidney disease Nephropathy Limitation of joint mobility Hyperpigmentation of the skin Keratitis Joint swelling Xerostomia Hematuria Mitral regurgitation Amaurosis fugax Cervical lymphadenopathy Cholecystitis Abnormal oral mucosa morphology Glossitis Abnormal pericardium morphology Conjunctival hyperemia CSF pleocytosis Coronary artery aneurysm Elevated C-reactive protein level Abnormality of nail color Arthralgia/arthritis Pyuria Abnormal emotion/affect behavior Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Strawberry tongue Aseptic leukocyturia Cheilitis Recurrent pharyngitis Cholestasis Scaling skin Decreased liver function Meningitis Conjunctivitis Cranial nerve paralysis Ischemic stroke Hypoalbuminemia Coronary artery atherosclerosis Abnormal myocardium morphology Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Acute kidney injury Aortic root aneurysm Tubulointerstitial nephritis Myocarditis Allergy Gastrointestinal infarctions Abnormal endocardium morphology Proximal placement of thumb Sex reversal Self-mutilation Postaxial foot polydactyly Male pseudohermaphroditism Microglossia Severe failure to thrive Excessive daytime somnolence Overlapping fingers Abnormal eyelash morphology Bifid tongue Breech presentation Bicornuate uterus Cholestatic liver disease Abnormality of the larynx Gastrointestinal dysmotility Upper limb undergrowth Abnormal lung lobation Aplasia/Hypoplasia affecting the eye Adrenal insufficiency Clitoral hypertrophy Hammertoe Abnormality of dental morphology Cutis marmorata Metatarsus adductus Overlapping toe Mesomelia Epiphyseal stippling Atrioventricular canal defect Abnormality of digit Biparietal narrowing Increased number of teeth Ulnar deviation of finger Aplasia/Hypoplasia of the radius Hypopigmentation of hair Abnormal renal morphology Abnormal localization of kidney Arterial stenosis Chest pain Facial capillary hemangioma Abnormality of limbs Elevated 7-dehydrocholesterol Hyperhidrosis Weight loss Myalgia Subcutaneous nodule Severe photosensitivity Anorexia Hemoptysis Gangrene Cerebral ischemia Reduced consciousness/confusion Abnormal aortic valve morphology Abnormal pattern of respiration Opsoclonus Alveolar ridge overgrowth Hypocholesterolemia Broad alveolar ridges Decreased circulating aldosterone level Advanced eruption of teeth Ureteropelvic junction obstruction Ectopic calcification Increased nuchal translucency Gastroschisis Mesomelic short stature Sleep-wake cycle disturbance Knee flexion contracture Hip subluxation Increased serum testosterone level Talipes calcaneovalgus Periventricular gray matter heterotopia Abnormality of the gallbladder Septate vagina Sparse eyelashes Posterior embryotoxon Muscle stiffness Febrile seizures Supernumerary nipple Ectopic kidney Hallux valgus Rocker bottom foot Cupped ear Sparse eyebrow Abnormality of the genitourinary system Drooling Widely spaced teeth Cutaneous syndactyly Pointed chin Postnatal microcephaly Open mouth Dehydration Focal-onset seizure External ear malformation Otitis media Esotropia Vesicoureteral reflux Brain atrophy Tapered finger Everted lower lip vermilion Falls Cleft upper lip Abnormality of the cerebral white matter Pectus carinatum Coloboma Anxiety Deeply set eye Macrotia Drowsiness Pulmonary artery stenosis Mandibular prognathia Generalized muscle hypertrophy Dental malocclusion Abnormal bleeding Bruising susceptibility Leukemia Kyphoscoliosis Rod-cone dystrophy Hernia Intellectual disability, mild Myopia Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Uplifted earlobe Abnormal eyebrow morphology Broad hallux phalanx Low hanging columella Chronic constipation Misalignment of teeth Abnormality of the gastrointestinal tract Bruxism Large earlobe Broad columella Atypical absence seizures Esodeviation Prominent nasal tip Broad eyebrow Subglottic stenosis Deep plantar creases Happy demeanor High forehead Cerebral cortical atrophy Clumsiness Thoracic aorta calcification Tetraparesis Syncope Hypoplasia of the maxilla Short foot Small hand Inability to walk Tachycardia Paralysis Joint laxity Thin upper lip vermilion Gait ataxia Abnormality of the dentition Respiratory distress Ataxia Bicuspid pulmonary valve Hypoplasia of dental enamel Abnormality of the left ventricular outflow tract Mitral atresia Cystic medial necrosis Ascending aortic dissection Aortic arch aneurysm Aortic valve calcification Thoracic aortic aneurysm Asymmetric septal hypertrophy Mitral stenosis Aortic dissection Double outlet right ventricle Hypoplastic left heart Heart murmur Aortic valve stenosis Palpitations Decreased body weight Absent speech Scaphocephaly Frontal bossing Motor delay Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Delayed eruption of permanent teeth Persistence of primary teeth Periodic paralysis Hyperthyroidism Short phalanx of finger Short metatarsal Cardiac arrest Scapular winging Ventricular tachycardia Oligodontia Ventricular arrhythmia Growth abnormality Hypokalemia Slender long bone Myotonia Preauricular pit Loss of consciousness High pitched voice Prolonged QT interval Agenesis of permanent teeth Ventricular hypertrophy Left ventricular hypertrophy Bilateral single transverse palmar creases Perimembranous ventricular septal defect Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Femoral hernia Interrupted aortic arch Accommodative esotropia Graves disease Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Juvenile rheumatoid arthritis Tetany Myelomeningocele Truncus arteriosus Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Autoimmune thrombocytopenia Esophoria Sacral meningocele Inflammation of the large intestine Dolichocephaly Elbow flexion contracture Sparse and thin eyebrow Bowing of the long bones Heterotopia Pachygyria Abnormality of the metaphysis Cerebellar vermis hypoplasia Status epilepticus Hypsarrhythmia Prominent nose Delayed myelination Single transverse palmar crease Thick vermilion border Platyspondyly Small for gestational age Decreased circulating parathyroid hormone level Osteoporosis Parathyroid hypoplasia Parathyroid agenesis Type I truncus arteriosus Respiratory insufficiency Cerebral atrophy Alopecia Respiratory failure Corneal opacity Hyperkeratosis Osteopenia Rigidity Abnormality of the nervous system Muscular hypotonia of the trunk Apnea Autoimmune hemolytic anemia Acne Lymphedema Neuroblastoma Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Abnormality of the vertebral column Superior pectus carinatum Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Myelodysplasia Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Azoospermia Plagiocephaly Amegakaryocytic thrombocytopenia Reduced factor XII activity Rheumatoid arthritis Craniosynostosis Cholelithiasis Nasal speech Schizophrenia Purpura Hypocalcemia Spina bifida Exotropia Broad thumb Renal dysplasia Chorea Hemolytic anemia Astigmatism Generalized tonic-clonic seizures Autoimmunity Cleft lip Neurofibrosarcoma Nasogastric tube feeding Panuveitis Juvenile myelomonocytic leukemia Loose anagen hair Pectus excavatum of inferior sternum Gonadal neoplasm Reduced factor XIII activity Preductal coarctation of the aorta Umbilical hernia Postductal coarctation of the aorta Delayed speech and language development Immunodeficiency Obesity Inguinal hernia Narrow mouth Abnormal gallbladder morphology


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